CFHR1, complement factor H related 1, 3078

N. diseases: 90; N. variants: 4
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0003460
Disease: Anuria
Anuria 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0
CUI: C1837512
Disease: Decreased serum complement C3
Decreased serum complement C3 		phenotype Finding 12 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C0700225
Disease: Serum creatinine raised
Serum creatinine raised 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 27 2 0.100 None 0
CUI: C0677628
Disease: Macular drusen
Macular drusen 		phenotype Eye Diseases Finding 4 0.100 None 0
CUI: C0344386
Disease: Schistocytosis
Schistocytosis 		phenotype Laboratory or Test Result 5 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.300 moderate 0
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
CUI: C0151539
Disease: Blood urea increased
Blood urea increased 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 12 0.100 None 0
CUI: C0034150
Disease: Purpura
Purpura 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.100 None 0
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0
CUI: C0009421
Disease: Comatose
Comatose 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 1 0.100 None 0
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C4021636
Disease: Decreased serum complement factor B
Decreased serum complement factor B 		phenotype Finding 5 0.100 None 0
CUI: C1969222
Disease: Decreased serum complement factor H
Decreased serum complement factor H 		phenotype Finding 4 0.100 None 0
CUI: C4022807
Disease: Foveal hypopigmentation
Foveal hypopigmentation 		phenotype Finding 4 0.100 None 0
CUI: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 31 0.100 None 0
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.100 None 0
CUI: C1864205
Disease: Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 1 		disease Eye Diseases Disease or Syndrome 6 3 0.300 None 0
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 91 6 0.100 None 0